ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del)

dbSNP: rs749887998
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002265428 SCV002547135 uncertain significance not provided 2022-01-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function
Ambry Genetics RCV002434613 SCV002746327 uncertain significance Cardiovascular phenotype 2023-01-11 criteria provided, single submitter clinical testing The c.29894_29896delAAG variant (also known as p.E9965del) is located in coding exon 119 of the TTN gene. This variant results from an in-frame AAG deletion at nucleotide positions 29894 to 29896. This results in the in-frame deletion of a glutamic acid at codon 9965. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002496203 SCV002783981 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-07-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002265428 SCV003825508 uncertain significance not provided 2020-07-29 criteria provided, single submitter clinical testing

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